Cognitive and adaptive development of patients with tuberous sclerosis complex: A retrospective, longitudinal investigation

ObjectiveThe aim of the work described here was to systematically analyze the developmental trajectory of patients with tuberous sclerosis complex (TSC).MethodsA retrospective longitudinal chart review was performed, selecting patients who received multiple neuropsychological assessments. Intellectual/Developmental Quotients, Adaptive Behavior Composite scores, and clinical data were collected. On available EEGs, interictal epileptiform discharges were counted.ResultsSixty-six (18%) patients with TSC received multiple cognitive and adaptive development assessments. The mean intelligence of this study group remained relatively stable, albeit variable. Significant decline in adaptive functioning was observed, associated with lower age at seizure onset. Patients who underwent neurosurgery prior to baseline testing showed cognitive improvement. Developmental declines were significantly associated with increased numbers of antiepileptic drugs, with a trend toward association with mutation type and interictal epileptiform discharges.ConclusionThis study suggests that the developmental course of patients with TSC may be altered by epilepsy comorbidity and neurosurgery, underlining the need for early and effective interventions in this population.

► A referred cohort of patients with tuberous sclerosis complex showed a variable intellectual profile with relative decline of adaptive skills. ► Various epilepsy variables may alter the developmental trajectory of patients with tuberous sclerosis complex. ► Indications for long-term cognitive improvements were observed in patients with a history of neurosurgery.